Genetic disorders

When Dee Threlfo decided to adopt children with special needs, many people questioned her move. But years later the children, now adults, are thriving, and are a testament to her decision to "dream big" for them.

Scientists in the United States have made vast family trees by examining patients' emergency contact details. Here in Australia, experts hope My Health Record data could be used in much the same way — as a powerful tool for medical research.

Monkol Lek was a Cambodian refugee who came to Australia as a baby and developed muscular dystrophy as a young man. He now has his own lab at one of the world's leading universities where, through his work on the human genome, he's isolated the exact gene mutation which has caused his disease.

At a medical laboratory at Yale University in Connecticut a remarkable story is unfolding, and at its centre is an extraordinary Australian scientist who is attracting global attention for his research into the genetic causes of muscular dystrophy.

Children with a muscle-wasting condition called spinal muscular atrophy will get a "life-saving" breakthrough drug for just $40, instead of hundreds of thousands of dollars, with $240 million in funding to be allocated in the federal budget to list the drug on the PBS.

Fascination with personal genetics is fuelling an explosion of online DNA testing. Here's five things you need to know before spitting into a tube for an online DNA test, write Jane Tiller and Paul Lacaze.

After losing their baby to a genetic condition, Rachael and Jonny Casella were determined to prevent heartache for other couples. The Health Minister was listening and has vowed to make "Mackenzie's mission" his life's work and increase access to couples for pre-pregnancy screening.

Rachael and Jonny Casella lost their daughter Mackenzie to a genetic condition they had no idea existed. Now they're fighting for every Australian couple to have access to free screening before they start a family.

Parents of children who suffer from a rare and potentially deadly muscle-wasting disease are facing medical bills of up to $1 million a year after a new treatment was rejected for listing on the Pharmaceutical Benefits Scheme.

There are calls for ground-breaking reproductive technology, which prevents parents from passing on a debilitating and potentially fatal genetic disease, to their children to be made legal in Australia.